Tag: inherited disease

  • Gilbert-Lereboullet Syndrome

    Gilbert-Lereboullet Syndrome Definition and Description of Gilbert-Lereboullet Syndrome Gilbert-Lereboullet Syndrome is a benign liver condition characterized by an elevated level of bilirubin in the blood. It results from the liver’s inability to process bilirubin appropriately. This syndrome is caused by a genetic mutation that affects the enzyme responsible for bilirubin conjugation, resulting in unconjugated hyperbilirubinemia.…

  • Fabry Disease

    Fabry Disease Definition and Description of Fabry Disease Fabry Disease is a rare genetic disorder that results from a deficiency of the enzyme alpha-galactosidase A (GLA). This enzyme is crucial for the metabolism of certain lipids, specifically globotriaosylceramide. When GLA is deficient, toxic levels of these lipids build up in the body, particularly affecting the…

  • Childhood Giant Axonal Neuropathy

    Childhood Giant Axonal Neuropathy Definition and Description of Childhood Giant Axonal Neuropathy Childhood Giant Axonal Neuropathy (CGAN) is a rare inherited neurological disorder primarily affecting children. It is characterized by the abnormal growth of axons—long projections of nerve cells that transmit signals—resulting in progressive muscle weakness and atrophy. The condition is caused by mutations in…